Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152648932T>G , CM000669.2:g.152648932T>G | GRCh38 |
| NC_000007.13:g.152346017T>G , CM000669.1:g.152346017T>G | GRCh37 |
| NC_000007.12:g.151976950T>G | NCBI36 |
| NG_027988.1:g.32234A>C | |
| NG_027988.2:g.32234A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698506.1:c.385A>C | ENSP00000513758.1:p.Asn129His | |
| ENST00000359321.2:c.553A>C MANE Select | ENSP00000352271.1:p.Asn185His | |
| ENST00000359321.1:c.553A>C | ENSP00000352271.1:p.Asn185His | |
| ENST00000495707.1:n.575A>C | ||
| NM_005431.1:c.553A>C | NP_005422.1:p.Asn185His | |
| NM_005431.2:c.553A>C MANE Select | NP_005422.1:p.Asn185His |